A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615256



Internal ID7002145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141578052..141583993hg38UCSC Ensembl
Innerchr7:141578148..141583943hg38UCSC Ensembl
Outerchr7:141577914..141584131hg38UCSC Ensembl
chr7:141277852..141283793hg19UCSC Ensembl
Innerchr7:141277948..141283743hg19UCSC Ensembl
Outerchr7:141277714..141283931hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385942
hg195942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12985463, essv12985449, essv12985458, essv12985459, essv12985448, essv12985443, essv12985442, essv12985467, essv12985455, essv12985461, essv12985452, essv12985462, essv12985453, essv12985441, essv12985445, essv12985439, essv12985460, essv12985450, essv12985464, essv12985466, essv12985465, essv12985447, essv12985457, essv12985456, essv12985444, essv12985440, essv12985446, essv12985454, essv12985451, essv12985438
SamplesNA19141, HG02496, HG02583, HG03558, HG02476, HG01488, HG03370, NA12283, HG03479, NA19923, NA19026, NA20355, HG03343, HG01879, HG03563, NA19118, HG02256, HG03354, HG03109, HG02722, NA19035, HG02255, NA19149, HG02314, HG03557, HG02970, NA19223, NA19713, NA19474, NA19153
Known GenesAGK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615256
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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